Charcot-Marie-Tooth disease dominant intermediate E

Summary

DOID:0110205 - Charcot-Marie-Tooth disease dominant intermediate E

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.

Synonyms: autosomal dominant intermediate Charcot-Marie-Tooth disease type E, Charcot-Marie-Tooth disease-nephropathy syndrome, Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis, CMTDIE

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: inf2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013758 - Charcot-Marie-Tooth disease dominant intermediate E

MONDO:0013758 - Charcot-Marie-Tooth disease dominant intermediate E

MIM:

MIM:614455 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE

MIM:614455 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease intermediate type (is_a)